Canonical Allele Identifier: CA599045301
Gene: F2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.46723375G>T
GRCh37 chr11:g.46744925G>T
gnomAD v2:
11:46744925 G / T
gnomAD v3:
11:46723375 G / T
gnomAD v4:
chr11-46723375-G-T
Joint Max Group AF 0.00000803 (NFE)
Genomes Max Group AF 0.00000489 (NFE)
Exomes Max Group AF 0.00000731 (NFE)
ClinVar RCV:
RCV005192834
ClinVar Variation:
3709490
dbSNP:
2070852
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46723375G>T , CM000673.2:g.46723375G>T GRCh38
NC_000011.9:g.46744925G>T , CM000673.1:g.46744925G>T GRCh37
NC_000011.8:g.46701501G>T NCBI36
NG_008953.1:g.9183G>T , LRG_551:g.9183G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311907.10:c.423-7G>T MANE Select ENSP00000308541.5:n.423-7G>T
ENST00000311907.9:c.423-7G>T ENSP00000308541.5:n.423-7G>T
ENST00000442468.1:c.393-7G>T ENSP00000387413.1:n.393-7G>T
ENST00000490274.1:n.196G>T
ENST00000530231.5:c.423-7G>T ENSP00000433907.1:n.423-7G>T
NM_000506.3:c.423-7G>T NP_000497.1:n.423-7G>T
NM_000506.4:c.423-7G>T , LRG_551t1:c.423-7G>T NP_000497.1:n.423-7G>T
NM_001311257.1:c.375-7G>T NP_001298186.1:n.375-7G>T
XR_428840.2:n.467-7G>T
XR_428840.4:n.458-7G>T
NM_000506.5:c.423-7G>T MANE Select NP_000497.1:n.423-7G>T
NM_001311257.2:c.375-7G>T NP_001298186.1:n.375-7G>T
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